Linked Data
dbSNP Id:
rs2051090
gnomAD v2:
13-36454193-G-A
gnomAD v3:
13-35880056-G-A
gnomAD v4:
13-35880056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.35880056G>A , CM000675.2:g.35880056G>A | GRCh38 |
| NC_000013.10:g.36454193G>A , CM000675.1:g.36454193G>A | GRCh37 |
| NC_000013.9:g.35352193G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360631.8:c.824-8716C>T MANE Select | ENSP00000353846.3:n.824-8716C>T | |
| ENST00000255448.8:c.824-8716C>T | ENSP00000255448.4:n.824-8716C>T | |
| ENST00000360631.7:c.824-8716C>T | ENSP00000353846.3:n.824-8716C>T | |
| ENST00000379892.4:c.824-8716C>T | ENSP00000369222.4:n.824-8716C>T | |
| NM_004734.4:c.824-8716C>T | NP_004725.1:n.824-8716C>T | |
| XM_005266592.2:c.824-8716C>T | XP_005266649.1:n.824-8716C>T | |
| XM_006719893.2:c.824-8716C>T | XP_006719956.1:n.824-8716C>T | |
| XR_941855.1:n.1312-16571G>A | ||
| NM_001330071.1:c.824-8716C>T | NP_001317000.1:n.824-8716C>T | |
| NM_001330072.1:c.824-8716C>T | NP_001317001.1:n.824-8716C>T | |
| XM_017020847.1:c.824-8716C>T | XP_016876336.1:n.824-8716C>T | |
| XM_017020848.1:c.824-8716C>T | XP_016876337.1:n.824-8716C>T | |
| XR_001749821.1:n.77-16571G>A | ||
| XR_941855.2:n.77-16571G>A | ||
| NM_001330071.2:c.824-8716C>T MANE Select | NP_001317000.1:n.824-8716C>T | |
| NM_001330072.2:c.824-8716C>T | NP_001317001.1:n.824-8716C>T | |
| NM_004734.5:c.824-8716C>T | NP_004725.1:n.824-8716C>T |